DNAAF4, dynein axonemal assembly factor 4, 161582

N. diseases: 70; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809641
Disease: CILIARY DYSKINESIA, PRIMARY, 25
CILIARY DYSKINESIA, PRIMARY, 25
0.800 Biomarker disease MGD DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
CUI: C3809641
Disease: CILIARY DYSKINESIA, PRIMARY, 25
CILIARY DYSKINESIA, PRIMARY, 25
0.800 Biomarker disease GENOMICS_ENGLAND DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
CUI: C3809641
Disease: CILIARY DYSKINESIA, PRIMARY, 25
CILIARY DYSKINESIA, PRIMARY, 25
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C3809641
Disease: CILIARY DYSKINESIA, PRIMARY, 25
CILIARY DYSKINESIA, PRIMARY, 25
0.800 CausalMutation disease CLINVAR
CUI: C3809641
Disease: CILIARY DYSKINESIA, PRIMARY, 25
CILIARY DYSKINESIA, PRIMARY, 25
0.800 Biomarker disease CTD_human
CUI: C3809641
Disease: CILIARY DYSKINESIA, PRIMARY, 25
CILIARY DYSKINESIA, PRIMARY, 25
0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 Biomarker disease BEFREE We examined 4 SNPs located on genes previously associated to dyslexia (KIAA0319, DCDC2, DYX1C1 and FOXP2) and 3 SNPs within genes related to ADHD (COMT, MAOA and DBH) in a cohort of Spanish children (N = 2078) that met the criteria of having one, both or none of these disorders (dyslexia and ADHD). 30379906 2018
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 GeneticVariation disease BEFREE Deficits in learning and memory in mice with a mutation of the candidate dyslexia susceptibility gene Dyx1c1. 25989970 2017
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 Biomarker disease BEFREE Our results do not reveal a migration disorder in the mouse model, adding to the body of evidence available for Dcdc2 and Dyx1c1 that, unlike in the rat in utero knockdown models, the dyslexia-susceptibility candidate mouse homolog genes do not play an evident role in neuronal migration. 27510895 2017
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 Biomarker disease BEFREE Several candidate genes have been proposed to be implicated in dyslexia susceptibility, such as DYX1C1, ROBO1, KIAA0319, and DCDC2. 28074887 2017
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 GeneticVariation disease BEFREE Our results corroborate the emerging role of DCGs in ciliary function and characterize functional noncoding elements, X-box promoter motifs, in DCG promoter regions, which thus can be targeted for mutation screening in dyslexia and ciliopathies associated with these genes.-Tammimies, K., Bieder, A., Lauter, G., Sugiaman-Trapman, D., Torchet, R., Hokkanen, M.-E., Burghoorn, J., Castrén, E., Kere, J., Tapia-Páez, I., Swoboda, P. Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor (RF) X transcription factors through X-box promoter motifs. 27451412 2016
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 GeneticVariation disease BEFREE The brain regions were partly overlapping with the previously reported region influenced by polymorphisms in the dyslexia susceptibility genes DYX1C1 and KIAA0319. 26400686 2015
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.500 Biomarker disease CTD_human DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
0.500 GermlineCausalMutation disease ORPHANET DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 Biomarker disease BEFREE DYX1C1 has been associated with dyslexia and neuronal migration in the developing neocortex. 23872636 2013
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
0.500 Biomarker disease CTD_human DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
CUI: C4317124
Disease: Polynesian Bronchiectasis
Polynesian Bronchiectasis
0.500 GermlineCausalMutation disease ORPHANET DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
0.500 GermlineCausalMutation disease ORPHANET DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
0.500 Biomarker disease CTD_human DYX1C1 is required for axonemal dynein assembly and ciliary motility. 23872636 2013
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 GeneticVariation disease BEFREE Association of the DYX1C1 dyslexia susceptibility gene with orthography in the Chinese population. 23028439 2012
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 AlteredExpression disease BEFREE CYP19A1 expression in human brain correlated with the expression of dyslexia susceptibility genes such as DYX1C1 and ROBO1. 22426781 2012
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 GeneticVariation disease BEFREE In conclusion, our results suggested that the 931C > T variant in KIAA0319, but not the -3G > A in DYX1C1, was significantly associated with the risk of dyslexia. 23065966 2012
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 Biomarker disease BEFREE The dyslexia candidate gene DYX1C1 is a potential marker of poor survival in breast cancer. 22375924 2012
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 GeneticVariation disease BEFREE Recent research using animal models and embryonic RNA interference (RNAi) has shown that a subset of the candidate dyslexia risk genes--DYX1C1, ROBO1, DCDC2, KIAA0319--regulate critical parameters of neocortical development, such as neuronal migration. 22326444 2012
CUI: C0476254
Disease: Dyslexia
Dyslexia
0.500 Biomarker disease BEFREE We investigated single nucleotide polymorphisms in three genes previously associated with dyslexia and implicated in neuronal migration (DYX1C1, DCDC2, KIAA0319) and white matter volume in a cohort of 76 children and young adults from the general population. 22683091 2012